Supporting research into rare genetic diseases

3 minute read 

The Medical Research Council (MRC) has invested £50 million into the study of mitochondrial diseases and the new MRC Centre of Research Excellence in Mitochondrial Genome Therapeutics brings together leading experts from across disciplines to define how mutations in mitochondrial DNA (mtDNA) cause disease and translate that knowledge into therapies. 

Genetic disorders which drive rare mitochondrial diseases affect around 1 in 5000 people, the majority of which have no recognised cure or therapeutic pathway, leaving patients and their families facing significant unmet medical needs. 

Through its National Centre of Excellence in Mass Spectrometry Imaging, NPL will be contributing its mass spectrometry imaging (MSI) expertise to the programme, delivering spatially resolved metabolic data sets which can be combined with the team’s other disciplines to help uncover new therapeutic approaches to the wide-ranging disease states driven by mitochondrial dysfunction.  

MSI can provide spatially resolved metabolite distribution insights within tissues while preserving histological context. For mitochondrial dysfunction, these insights are valuable as changes are often highly localised and often exhibit variability between cell types, tissue regions and stages of disease.   

Dr Josephine Bunch, CBE, Head of Science, NPL said: “The assembly of a world leading cross disciplinary team led by Professor Minczuk offers a fantastic opportunity to deliver powerful new insights to our understanding of mitochondrial driven disorders. Through programmes applying MSI approaches across a range of different disease states we have assembled a powerful imaging pipeline able to drive the vital insights necessary to understand the initiation and progression of disease.”  

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